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概要

Ocular Phenotypes and In Vivo Laser Confocal Microscopy Findings in a Family with Schnyder Corneal Dystrophy Shared the Same UBIAD1 Mutation Locus (N102S)

Jian-wen Tan, Chao-ran Zhang and Fei-fei Huang

Purpose: This study aims to observe the ocular phenotypes of a family with Schnyder corneal dystrophy (SCD) and to assess the image features of SCD by in vivo laser corneal confocal microscopy (IVCM).

Methods: A family with SCD was collected, and the corneal lesion of five affected members was observed. Bilateral corneas were examined using IVCM (Heidelberg Retina Tomograph III with Cornea Module) in three adult patients with SCD. Blood samples were collected for genetic analysis in the available family members.

Results: Phenotype heterogeneity was found in five affected individuals with a same mutation (N102S). Slit-lamp examination suggested no crystal in the right eye of a 40-year-old male SCD patient, but crystalline materials were found by IVCM. In some images of IVCM, crack-like striaes and crystalline materials with various shapes were observed in the stroma.

Conclusions: Extremely varied phenotypes between individual patients are demonstrated in this SCD family with a same mutation locus. Slit-lamp examination cannot find mini crystalline deposits in SCD cornea. Crystalline accumulations can be detected by ICVM at the cellular level prior to slit-lamp examination.